There have been a number of studies about the impact and burden of Huntington's disease (HD) on both those affected and their family carers. Though there are many other factors, the major recurring theme boils down to "lack of care". This includes lack of access to HD subspecialty medical care, lack of community medical or service provider knowledge about HD, and lack of support for family or other carers. It is unfortunate that the magnitude of burden imposed by "lack of care" for HD has not substantially changed over the two decades or so covered in these studies.

Why lack of care in HD? It boils down to "too few" subspecialty centers centers who care for "too few" individuals with HD "too few" times a year. The numbers reported by the 29 HDSA Center of Excellence sites (as of 2015) is in the range of 15% of the estimated population of 43,000 in the U.S. Though done nearly a decade ago, a study commissioned by the CHDI foundation came up with and confirmed about this same fraction at these subspecialty sites. Further this data suggests that the number has not changed substantially over the past decade. Where do others get care? That same CHDI study suggests that the majority of the remainder get medical care from general physicians, who with rare exception have little knowledge about HD care.

Lack of access to subspecialty care gets even worse as the disease progresses and care needs increase. No wonder both families and formal caretakers in long term facilities become overwhelmed, and feel abandoned because it is so hard to get knowledgeable help and support.

Why lack of subspecialty care in HD? It is really multifactorial:

  • There are far too few subspecialty centers centers, and those we have are caring for only a fraction of individuals with HD in their local geographic areas. Even when seen at centers, the frequency of visits for each patient (according to HDSA) is a fair amount lower than recommendations for other chronic diseases like diabetes or heart disease.
  • Many centers have limited professional capacity to either take on more patients, or to see those they have more frequently. The reason is inadequate reimbursement from insurers to pay for a full service HD clinic. For instance, there is no reimbursement mechanism for supporting the salaries of social workers at sub-specialty centers. Couple this with the (on average) longer (inadequately reimbursed) time required for an average patient visit, an HD clinic is a money losing proposition for institutions.
  • Bottom line: If the patient community wants more sub-specialty care, we will need to find other sources than insurance reimbursement to pay for it. This means more successful fundraising efforts in our communities to support these clinics, and to open new ones. It won't happen otherwise.

Why lack of HD knowledge/lack of adequate care by community physicians? Multifactorial here too:

  • Generalists don't get HD training
  • Development of clinical practice guidelines, whether for use in centers or outside of centers have not been a priority of our HD organizations
  • Our HD physician organizations have defined themselves to be research organizations, and specifically not care organizations.
  • There are no Standards of Care endorsed by our organizations to assist community physicians

Improving care for HD: Reality is that there has been little or no change in HD care delivery over the past decade or more. A couple of questions are in order. Is care improvement possible? Do our professional organizations have a commitment for improving care, or is it just too hard?

Instead of throwing up our hands, we could start by looking at what has been successful in another rare disease with about the same number as those with HD. In 1955, the Cystic Fibrosis Foundation was begun by families with the goal of supporting research. But they didn't remain just a research organization; six years later in 1961, they added "care" to their mission, and specifically:

  • They added and accredited subspecialty centers (now up to more than 100 centers and 55 affiliates) in the U.S.
  • They created a registry, now with enrollment of about 28,000 (out of an estimated 30,000) individuals with CF in the U.S.
  • They developed first clinical practice guidelines in 1990, before there was clinical trial evidence to support them. Among the first was simply recommending that centers see their patients 4 times per year. Subsequent studies have shown that those centers with more frequent patients visits are those where patients do better.
  • They provided education to center professionals regarding guidelines
  • They then followed this up by monitoring centers (using the CF registry) to see if they were complying with guidelines, and whether compliance resulted in better care.
  • They transparently shared those monitoring results with other centers and their family communities. If families could see that their local center was not doing as well as others, the centers and families worked to improve care.
  • Care has steadily improved nationwide, as have quality and many more years of life for those with CF.

Available in open access form as part of a larger article is a section entitled "The interdependent roles of patients, families and professionals in cystic fibrosis: a system for the coproduction of healthcare and its improvement" by Kathryn Sabadosa. Published in 2014, she details her journey as family advocate working within the CF Foundation to improve care for her son and others with CF [Sabadosa KA 2014]. I had the privilege of meeting with her several years ago.

Any changes for HD care on the horizon? As a beginning effort, this author and a group of international experts created and published expert preference guides for the treatment of chorea, irritability, and perseverative behaviors in HD in 2011. Unfortunately, these guides were not officially endorsed or promoted by our HD organizations, and as such could have only limited impact on care improvement.

In ongoing efforts, this author and an international group of HD expert psychiatrists will publish clinical practice guides for 5 more symptoms of HD including anxiety, apathy, agitation, psychotic symptoms and sleep disorders during 2016. Another group of international experts are working on guidelines for physical therapy in HD. These are steps forward, but will likely have limited chance of improving care in centers or our communities if our organizations fail to endorse or promote them.

Also in ongoing efforts, this author is also working with an international group of HD professionals who are studying the Enroll-HD data base with the aspiration of standardizing and improving care in HD.

Author's comments: Conferences led by our HD organizations appropriately leave us in awe of the hundreds of scientists, clinicians, and increasing number of drug companies working towards new drugs to help symptoms, slow down the disease, and even find a cure for HD. These of course are vitally important endeavors. At the same time however, there is a glaring absence of formal effort for programs to maximize care with current treatments. While we wait for better things, maximizing care with presently available treatments will give individuals with HD and their families the best chance for a better life with what we have now.


Sabadosa KA, Batalden PB. The interdependent roles of patients, families and professionals in cystic fibrosis: a system for the coproduction of healthcare and its improvement. BMJ Qual Saf. 2014 Apr;23 Suppl 1:i90-4. doi: 10.1136/bmjqs-2013-002782. PubMed abstract